Benjamin Helm, PhD, MS, CGC
@bmhgcepi.bsky.social
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Genetic Counselor, Epidemiology, Cardiovascular Genetics
Today is FH Awareness Day,
#KnowFH
. Anyone working with or experiencing familial heart diseases and genetically high cholesterol disorders benefit from the work of the
@familyheartfdn.bsky.social
21 days ago
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Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine
www.ahajournals.org/doi/10.1161/...
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Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine
BACKGROUND: Lipoprotein(a) [Lp(a)] is a predictor of atherosclerotic cardiovascular disease (ASCVD); however, there are few algorithms incorporating Lp(a), especially from real-world settings. We deve...
https://www.ahajournals.org/doi/10.1161/CIRCGEN.124.004631?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed#supplementary-materials
22 days ago
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Experiences of people with elevated lipoprotein(a) and the impact on family and child screening - Journal of Clinical Lipidology
www.lipidjournal.com/article/S193...
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Experiences of people with elevated lipoprotein(a) and the impact on family and child screening
Lipoprotein(a) [Lp(a)] is a low-density lipoprotein (LDL) particle additionally bound to apolipoprotein(a) [apo(a)], and it is an independent causal risk factor for cardiovascular disease.1,2 Lp(a) co...
https://www.lipidjournal.com/article/S1933-2874%2825%2900351-4/fulltext
2 months ago
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Factors influencing retention of patientâfacing genetic counselors: Role of generational age and work environment - Frye - 2025 - Journal of Genetic Counseling
onlinelibrary.wiley.com/doi/10.1002/...
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https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70076
3 months ago
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Sorry, what was the question again?
open.substack.com/pub/statsepi...
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Sorry, what was the question again?
And again. And again. And again...
https://open.substack.com/pub/statsepi/p/sorry-what-was-the-question-again?utm_campaign=post&utm_medium=web
3 months ago
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steven-senior.medium.com/it-wont-work...
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It wonât work but at least itâll be expensive: Why genomics could be an expensive distraction whenâŠ
The NHS 10 year plan puts a lot of stock in genomics for preventing people getting sick. For example, it envisages aânew genomicsâŠ
https://steven-senior.medium.com/it-wont-work-but-at-least-it-ll-be-expensive-why-genomics-could-be-an-expensive-distraction-when-00a40ee713d2
3 months ago
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pubmed.ncbi.nlm.nih.gov/26979548/
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The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis - PubMed
This is a revised and updated version of a Cochrane review from 2010, adding 11 studies to the seven previously identified.
https://pubmed.ncbi.nlm.nih.gov/26979548/
3 months ago
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Ongoing work on rGS in the ICU setting:
publications.aap.org/pediatrics/a...
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Standardized Criteria for Genomic Testing in the NICU
BACKGROUND. Genetic disorders are pervasive in neonatal intensive care unit (NICU) populations, and the superiority of genomic testing to rapidly identify genetic diagnoses is established, yet patient...
https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2024-069591/202237/Standardized-Criteria-for-Genomic-Testing-in-the
4 months ago
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Work from our recent IUGCP graduate: Evaluating firstâline genetic testing strategies for inpatients with congenital heart defects - Lindstrom - 2025 - Journal of Genetic Counseling -
onlinelibrary.wiley.com/doi/10.1002/...
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Evaluating firstâline genetic testing strategies for inpatients with congenital heart defects
Genetic testing strategies used to determine the etiology of congenital heart disease/defects (CHD/CHDs) vary between and within institutions, leading to potentially missed diagnostic opportunities. ....
https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70073
4 months ago
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reposted by
Benjamin Helm, PhD, MS, CGC
Jehannine (J9) Austin
4 months ago
Thrilled to share the Journal of Genetic Counseling's Special issue on Research Methods! Including "how to" papers on: Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc!
onlinelibrary.wiley.com/doi/toc/10.1...
#AcademicSky
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Research Methods in Genetic Counseling: Journal of Genetic Counseling
Click on the title to browse this issue
https://onlinelibrary.wiley.com/doi/toc/10.1002/(ISSN)1573-3599.research-methods
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We hope to see our research methods paper be a resource to the GC community tackling their research using quantitative methods:
onlinelibrary.wiley.com/doi/10.1002/...
@j9austin.bsky.social
#GCchat
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Research methods in genetic counseling: Statistical approaches and resources
The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our ne...
https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70042
5 months ago
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pubmed.ncbi.nlm.nih.gov/40266171/
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Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal - PubMed
Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal
https://pubmed.ncbi.nlm.nih.gov/40266171/
5 months ago
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I kinda wish "Effect and Cause" by the White Stripes would become the unofficial song for directed acyclic graphs (DAGs) and causal inference, generally
@pwgtennant.bsky.social
@epiellie.bsky.social
@epidbydesign.bsky.social
6 months ago
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Here is our work stemming from my dissertation on dysmorphology-guided prediction of genetic disorders in CHD:
www.ahajournals.org/doi/10.1161/...
We also use DCA to support genetic testing for CHD populations agnostic to clinical presentation
@jamesrpriestmd.bsky.social
@jwbelmon.bsky.social
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Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease | Circulation: Genomic and Precision Medicine
BACKGROUND: Genetic disorders are prevalent in patients with congenital heart disease (CHD), but genetic evaluations are underutilized and nonstandardized. We sought to quantify a dysmorphology score ...
https://www.ahajournals.org/doi/10.1161/CIRCGEN.124.004895
7 months ago
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onlinelibrary.wiley.com/doi/abs/10.1...
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Addressing United States government censorship as related to genetic counseling research in the Journal of Genetic Counseling
Click on the article title to read more.
https://onlinelibrary.wiley.com/doi/abs/10.1002/jgc4.70029
7 months ago
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Navigating VUS in genetic dyslipidemias, led by Hannah Ison, Gabe Kringlen, and Paul Crawford:
pubmed.ncbi.nlm.nih.gov/39950242/
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Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients - PubMed
This review aims to summarize this literature and provide insight into variant interpretation, practical steps clinicians can take to further assess a VUS, and considerations when counseling patients ...
https://pubmed.ncbi.nlm.nih.gov/39950242/
8 months ago
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reposted by
Benjamin Helm, PhD, MS, CGC
Jehannine (J9) Austin
10 months ago
Huge gratitude to all the members of the editorial board, all our authors, reviewers, the podcast team... so many people contribute to our success... thank you all!
@jodieingles27.bsky.social
@tashawainstein.bsky.social
@bmhgcepi.bsky.social
@laurahercher.bsky.social
@naomi-cgc.bsky.social
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reposted by
Benjamin Helm, PhD, MS, CGC
Maarten van Smeden
10 months ago
Let us start 2025 in a positive mood: here are 10 methods things researchers can worry *less* about in 2025
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Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing:
onlinelibrary.wiley.com/doi/10.1002/...
#cardiosky
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Performance of DysmorphologyâBased Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Overview of study design and resultsâDysmorphic patients had a two-fold increased risk of having genetic disorders identified, consistent across extra cardiac anomalies (ECA) status. However, dysmorp...
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70040
11 months ago
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www.ahajournals.org/doi/10.1161/...
11 months ago
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jamanetwork.com/journals/jam...
11 months ago
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Compared larger to a smaller model (log reg), the LR test and delta AUC support use of the smaller model. But a reviewer now asking 4 NRI to "prove" the larger didn't improve NRI. I know Kerr's and Vickers's views of NRI (bad). How would u respond?
@gscollins.bsky.social
@richarddriley.bsky.social
11 months ago
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Prediction models need appropriate internal, internal-external, and external validation:
www.ncbi.nlm.nih.gov/pmc/articles...
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Prediction models need appropriate internal, internal-external, and external validation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578404/
about 1 year ago
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Decision curve analysis supports universal genetic testing in infants w/ CHD:
www.mdpi.com/2073-4425/15...
. Thanks
@ddsjoberg.bsky.social
for DCA macros.
@jamesrpriestmd.bsky.social
@jwbelmon.bsky.social
over 1 year ago
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@ddsjoberg.bsky.social
wanted to say thank you for the great tutorial on DCA... especially the SAS macro. Dissertation spinoff projects have used it. Thanks!
almost 2 years ago
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